Searchable abstracts of presentations at key conferences in endocrinology

ea0095p87 | Adrenal 2 | BSPED2023

A case of 17 α-hydroxylase enzyme deficiency; a rare cause of adrenal insufficiency

Baioumi Alaa , Sen Proteek , Eggers Ann , Candler Toby

Background: 17 α-hydroxylase enzyme deficiency is a rare condition and is responsible for < 1% of cases of congenital adrenal hyperplasia (CAH). Females present with delayed puberty due to reduced production of sex steroids and males can present with female external genitalia or with various degrees of genital ambiguity.Case presentation: A 4.5-year-old female – previously fit and well – presented to E...